ArticleFrontiers in genetics2026
Clinical characterization and molecular analysis of X-linked juvenile retinoschisis in a northern Chinese cohort.
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Purpose: This study aims to explore the clinical features and genetic findings associated with X-linked juvenile retinoschisis (XLRS) in affected patients. Methods: This study included 16 patients with XLRS from 13 unrelated families between 2016 and 2024. Genomic DNA from peripheral blood leukocytes of the probands were subjected to whole-exome sequencing or direct sequence. Comprehensive analyses of molecular genetic profiles and detailed ophthalmic evaluations were performed. Results: We identified 12 retinoschisin 1 ( Conclusion: This study comprehensively analyzed the genetic and clinical features of XLRS in a northern Chinese cohort. Five novel variants were identified, expanding the known mutational spectrum and enriching the clinical manifestation. Distinct pigment clusters (Q43*) and asymmetric schisis (R182C) appeared consistently within our limited cohort carrying specific mutations, which may potentially facilitate the diagnosis of XLRS.
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